Intrafamilial Diversity of Clinical Severity in Dominant Dystrophic Epidermolysis Bullosa: Case Series of Three Generations

Abstract

© 2019 Diana et al. Background: Epidermolysis bullosa, a group of inheritable blistering diseases with considerable clinical and genetic diversity, is divided into distinct subtypes depending on the level of tissue separation in the dermal–epidermal basement membrane zone. The dystrophic form of epidermolysis bullosa (DEB) is characterized by tense blisters and erosions which heals with extensive scarring. The fact that DEB can be inherited in either autosomal dominant (DDEB) or autosomal recessive (RDEB) pattern adds to its clinical diversity. The cause of marked clinical diversity in mild to severe DDEB is still unidentified. Main Observation: We report an intrafamilial diversity of clinical severity in dominant dystrophic epidermolysis bullosa (DDEB) cases within three generations. Conclusion: We emphasize the variety of clinical severity in DDEB cases within three generations which might be caused by unknown gene modifiers and environmental factors.